MCTD
MCID: MXD005
MIFTS: 57

Mixed Connective Tissue Disease (MCTD)

Categories: Bone diseases, Cardiovascular diseases, Immune diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases
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Aliases & Classifications for Mixed Connective Tissue Disease

MalaCards integrated aliases for Mixed Connective Tissue Disease:

Name: Mixed Connective Tissue Disease 11 19 58 75 53 43 14 16 71 33
Sharp Syndrome 19 58 75 33
Mctd 19 58
Connective Tissue Disease Overlap Syndrome 11
Mctd - [mixed Connective Tissue Disease] 33
Mixed Collagen Vascular Disease 11

Characteristics:


Inheritance:

Multigenic/multifactorial 58

Prevelance:

1-9/1000000 (Norway, Finland) 1-9/100000 (Norway, Japan, United States) 58

Age Of Onset:

Adolescent,Adult,Childhood 58

Age Of Death:

normal life expectancy 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare renal diseases
Rare respiratory diseases
Rare systemic and rhumatological diseases


Summaries for Mixed Connective Tissue Disease

GARD: 19 Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. Signs and symptoms vary but may include Raynaud's phenomenon; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown.

MalaCards based summary: Mixed Connective Tissue Disease, also known as sharp syndrome, is related to raynaud disease and systemic scleroderma. An important gene associated with Mixed Connective Tissue Disease is SNRNP70 (Small Nuclear Ribonucleoprotein U1 Subunit 70), and among its related pathways/superpathways are MIF Mediated Glucocorticoid Regulation and Processing of Capped Intron-Containing Pre-mRNA. The drugs Rituximab and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include lung, kidney and skin, and related phenotypes are arthritis and gastroesophageal reflux

Orphanet: 58 Mixed connective tissue disease (MCTD) is a rare connective tissue disorder combining clinical features of systemic lupus erythematosus (SLE), systemic sclerosis (SSc), polymyositis (PM) (see these terms) and/or rheumatoid arthritis (RA).

Disease Ontology: 11 A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen.

Wikipedia: 75 Mixed connective tissue disease, commonly abbreviated as MCTD, is an autoimmune disease characterized by... more...

Related Diseases for Mixed Connective Tissue Disease

Diseases related to Mixed Connective Tissue Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 805)
# Related Disease Score Top Affiliating Genes
1 raynaud disease 32.0 SNRNP70 RNPC3 ADAMTS13
2 systemic scleroderma 31.7 TNFSF13B TNF SNRNP70 IL6 IL10 HLA-DRB1
3 lupus erythematosus 31.7 SNRPN SNRPD3 SNRNP70 CD40LG
4 sjogren syndrome 31.6 TNFSF13B RNPC3 IL10 CD40LG
5 interstitial lung disease 31.4 TNF IL6 IL10 IFNG
6 aseptic meningitis 31.3 TNF IL6 IL10
7 pericarditis 31.2 TNF IL6 IFNG
8 glomerulonephritis 31.2 TNF IL6 IL10 CD40LG
9 myelitis 31.2 TNF IL6 IL10
10 myositis 31.2 TNF RNPC3 IL6 IFNG HLA-DRB1 HLA-DQA1
11 transverse myelitis 31.2 TNF IL6 HLA-DRB1
12 polyarteritis nodosa 31.1 TNF IL6 HLA-DRB1
13 meningitis 31.1 TNF IL6 IL10 IFNG
14 exanthem 31.0 TNF IL6 IL10 IFNG
15 myocarditis 31.0 TNF IL6 IL10 IFNG CD40LG
16 systemic onset juvenile idiopathic arthritis 30.9 IL6 HLA-DRB1
17 antiphospholipid syndrome 30.9 TNF CD40LG ADAMTS13
18 alopecia 30.8 TNF IL6 IFNG HLA-DRB1
19 calcinosis 30.8 TNF HLA-DRB1 HLA-DQA1
20 vasculitis 30.8 TNFSF13B TNF IL6 IL10 HSPD1 HLA-DRB1
21 spinal cord disease 30.8 TNF IL6 IL10
22 fasciitis 30.8 TNF IL6 IFNG
23 esophagitis 30.8 TNF IL6 IL10
24 juvenile rheumatoid arthritis 30.8 TNF IL6 HSPD1 HLA-DRB1 HLA-DQA1
25 telangiectasis 30.7 TNF SNRNP70 BMPR2 ACVRL1
26 childhood type dermatomyositis 30.7 TNF SNRNP70 HLA-DRB1 HLA-DQA1
27 vascular disease 30.7 TNF IL6 HSPD1 CD40LG BMPR2 ACVRL1
28 localized scleroderma 30.7 TNF SNRNP70 IL6
29 autoimmune hepatitis 30.7 TNF IL10 IFNG HSPD1 HLA-DRB1 CD40LG
30 disseminated intravascular coagulation 30.7 TNF IL6 IL10 ADAMTS13
31 respiratory failure 30.7 TNF IL6 IL10 IFNG
32 lymphadenitis 30.7 TNF IL6 IL10 IFNG
33 spondyloarthropathy 1 30.7 TNF IL6 IL10 HSPD1 CD40LG
34 septic arthritis 30.7 TNF IL6 IL10 HSPD1
35 tenosynovitis 30.6 TNF IL6 HSPD1
36 spondyloarthropathy 30.6 TNF IL6 IL10 IFNG HLA-DRB1
37 spondylitis 30.6 TNF IL6 IL10 IFNG HLA-DRB1
38 polyradiculoneuropathy 30.6 IL10 IFNG HLA-DRB1
39 atherosclerosis susceptibility 30.6 TNF IL6 IL10 HSPD1
40 sarcoidosis 1 30.6 TNF IL6 IL10 IFNG HLA-DRB1
41 purpura 30.6 TNFSF13B TNF IL6 IL10 IFNG HLA-DRB1
42 nocardiosis 30.6 TNF HSPD1
43 common cold 30.6 TNF IL6 IL10 CD40LG
44 pneumonia 30.5 TNF IL6 IL10 IFNG CD40LG
45 thyroiditis 30.5 TNF IL6 IL10 IFNG HLA-DRB1 HLA-DQA1
46 herpes zoster 30.5 IL10 IFNG HLA-DRB1
47 optic nerve disease 30.5 TNFSF13B TNF IL6 IL10 HLA-DRB1
48 iritis 30.5 TNF IL6 IL10
49 thrombocytopenia due to platelet alloimmunization 30.5 TNFSF13B IL10 ADAMTS13
50 autoimmune myocarditis 30.5 TNF IL6 IL10

Graphical network of the top 20 diseases related to Mixed Connective Tissue Disease:



Diseases related to Mixed Connective Tissue Disease

Symptoms & Phenotypes for Mixed Connective Tissue Disease

Human phenotypes related to Mixed Connective Tissue Disease:

58 30 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthritis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001369
2 gastroesophageal reflux 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002020
3 fatigue 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012378
4 autoimmunity 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002960
5 pulmonary fibrosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002206
6 dyspnea 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002094
7 myalgia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003326
8 chest pain 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100749
9 skin rash 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000988
10 elevated erythrocyte sedimentation rate 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003565
11 gastritis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005263
12 scleroderma 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100324
13 fever 58 30 Frequent (33%) Frequent (79-30%)
HP:0001945
14 arthralgia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002829
15 joint swelling 58 30 Frequent (33%) Frequent (79-30%)
HP:0001386
16 psychosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000709
17 keratoconjunctivitis sicca 58 30 Frequent (33%) Frequent (79-30%)
HP:0001097
18 myositis 58 30 Frequent (33%) Frequent (79-30%)
HP:0100614
19 pleuritis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002102
20 xerostomia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000217
21 splenomegaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001744
22 hepatomegaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002240
23 avascular necrosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010885
24 joint stiffness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001387
25 nephropathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000112
26 alopecia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001596
27 hemolytic anemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001878
28 purpura 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000979
29 gastrointestinal hemorrhage 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002239
30 peripheral neuropathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009830
31 pericarditis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001701
32 myocarditis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012819
33 meningitis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001287
34 prolonged bleeding time 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003010
35 mediastinal lymphadenopathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100721
36 pulmonary arterial hypertension 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002092
37 osteolysis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002797
38 leukopenia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001882
39 seizure 30 Occasional (7.5%) HP:0001250
40 seizures 58 Occasional (29-5%)
41 lymphadenopathy 58 Occasional (29-5%)
42 interstitial pulmonary abnormality 58 Occasional (29-5%)

GenomeRNAi Phenotypes related to Mixed Connective Tissue Disease according to GeneCards Suite gene sharing:

25 (show all 34)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.2 IL10
2 Increased shRNA abundance (Z-score > 2) GR00366-A-113 10.2 IL10
3 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10.2 HLA-DRB1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-125 10.2 IL10
5 Increased shRNA abundance (Z-score > 2) GR00366-A-137 10.2 HLA-DRB1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-142 10.2 HLA-DRB1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-152 10.2 IL10 SNRPA
8 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.2 IL10
9 Increased shRNA abundance (Z-score > 2) GR00366-A-163 10.2 SNRPA
10 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.2 HLA-DRB1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-173 10.2 BMPR2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.2 HLA-DRB1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-185 10.2 HLA-DRB1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-196 10.2 HLA-DRB1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-198 10.2 IL10
16 Increased shRNA abundance (Z-score > 2) GR00366-A-20 10.2 SNRPA
17 Increased shRNA abundance (Z-score > 2) GR00366-A-206 10.2 BMPR2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-21 10.2 SNRPA
19 Increased shRNA abundance (Z-score > 2) GR00366-A-210 10.2 IL10
20 Increased shRNA abundance (Z-score > 2) GR00366-A-213 10.2 BMPR2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.2 IL10
22 Increased shRNA abundance (Z-score > 2) GR00366-A-24 10.2 BMPR2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.2 SNRPA
24 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.2 IL10
25 Increased shRNA abundance (Z-score > 2) GR00366-A-53 10.2 IL10
26 Increased shRNA abundance (Z-score > 2) GR00366-A-65 10.2 BMPR2 IL10
27 Increased shRNA abundance (Z-score > 2) GR00366-A-67 10.2 IL10
28 Increased shRNA abundance (Z-score > 2) GR00366-A-68 10.2 IL10
29 Increased shRNA abundance (Z-score > 2) GR00366-A-80 10.2 BMPR2
30 Increased shRNA abundance (Z-score > 2) GR00366-A-82 10.2 IL10
31 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.2 BMPR2 IL10
32 Increased shRNA abundance (Z-score > 2) GR00366-A-86 10.2 HLA-DRB1
33 no effect GR00402-S-1 10.11 ACVRL1 ADAMTS13 BMPR2 CD40LG HLA-DQA1 HLA-DRB1
34 no effect GR00402-S-2 10.11 ACVRL1 ADAMTS13 BMPR2 CD40LG HLA-DQA1 HLA-DRB1

MGI Mouse Phenotypes related to Mixed Connective Tissue Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.4 ACVRL1 ADAMTS13 BMPR2 CD40LG HLA-DQA1 HSPD1

Drugs & Therapeutics for Mixed Connective Tissue Disease

Drugs for Mixed Connective Tissue Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rituximab Approved Phase 2, Phase 3 174722-31-7
2
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
3 Antineoplastic Agents, Alkylating Phase 2, Phase 3
4 Antirheumatic Agents Phase 2, Phase 3
5 Immunosuppressive Agents Phase 2, Phase 3
6 Antineoplastic Agents, Immunological Phase 2, Phase 3
7 Alkylating Agents Phase 2, Phase 3
8 Immunologic Factors Phase 2, Phase 3
9 Vaccines
10 Autoantibodies

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 A Randomized, Double Blind Controlled Trial Comparing Rituximab Against Intravenous Cyclophosphamide in Connective Tissue Disease Associated Interstitial Lung Disease Completed NCT01862926 Phase 2, Phase 3 Rituximab;Cyclophosphamide
2 A Multi-center, Randomized, Participant- and Investigator- Blinded, Placebo-controlled, Parallel Group Basket Study to Evaluate the Safety, Tolerability and Efficacy of MHV370 in Participants With Sjögren's Syndrome or Mixed Connective Tissue Disease Recruiting NCT04988087 Phase 2 MHV370;Placebo
3 A Phase I-II Open- Label Study to Assess the Safety, Tolerability, and Preliminary Efficacy of a Single Intravenous Dose of Autologous Adipose Stem Cell (Adult Human) to Subjects With Refractory Rheumatoid Arthritis, Relapsing Systemic Lupus Erythematosus or Sharp's Syndrome Terminated NCT02741362 Phase 1
4 Potential of Mesenchymal Stem Cell Enriched Adipose Tissue Grafting for Contour Deformities of Face Unknown status NCT02494752
5 The CARRA Registry Completed NCT01697254
6 Evaluation of Yellow Fever Vaccine in Patients With Rheumatic Diseases Under Low Immunosuppression Level and Residing in a Risk Area Completed NCT03430388
7 Connective Tissue Disease Leg Ulcer Etiology Study Completed NCT00522002
8 Rheumatology Patient Registry and Biorepository Recruiting NCT04402086
9 Immune Response to Small Nuclear Ribonucleoprotein Autoantigens Recruiting NCT00582881
10 New Orleans Pulmonary Hypertension Biobank Recruiting NCT03269630
11 Atherosclerosis in Juvenile Mixed Connective Tissue Disease Active, not recruiting NCT03581162

Search NIH Clinical Center for Mixed Connective Tissue Disease

Cochrane evidence based reviews: mixed connective tissue disease

Genetic Tests for Mixed Connective Tissue Disease

Anatomical Context for Mixed Connective Tissue Disease

Organs/tissues related to Mixed Connective Tissue Disease:

MalaCards : Lung, Kidney, Skin, Bone, Heart, T Cells, Endothelial

Publications for Mixed Connective Tissue Disease

Articles related to Mixed Connective Tissue Disease:

(show top 50) (show all 2261)
# Title Authors PMID Year
1
Nonspecific interstitial pneumonia associated with collagen vascular disease: analysis of CT features to distinguish the various types. 53 62
19443969 2009
2
Multiple specificities of autoantibodies against hnRNP A/B proteins in systemic rheumatic diseases and hnRNP L as an associated novel autoantigen. 53 62
17453722 2007
3
A murine model of mixed connective tissue disease induced with U1 small nuclear RNP autoantigen. 53 62
16453294 2006
4
Lack of circulating autoantibodies to bone morphogenetic protein receptor-II or activin receptor-like kinase 1 in mixed connective tissue disease patients with pulmonary arterial hypertension. 53 62
15509626 2005
5
Absence of autoantibodies against correctly folded recombinant fibrillin-1 protein in systemic sclerosis patients. 53 62
16277674 2005
6
Autoantibodies specific for apoptotic U1-70K are superior serological markers for mixed connective tissue disease. 53 62
15743477 2005
7
Mixed connective tissue disease associated with antineutrophil cytoplasmic antibodies against proteinase-3 and systemic atherosclerosis: a case report. 53 62
15459817 2004
8
[Comparison between line immunoassay (LIA) and enzyme-linked immunosorbent assay (ELISA) for the determination of antibodies to extractable nuclear antigenes (ENA) with reference to other laboratory results and clinical features]. 53 62
12399881 2002
9
Structural analysis of TCRalpha and beta chains from human T-Cell clones specific for small nuclear ribonucleoprotein polypeptides Sm-D, Sm-B and U1-70 kDa: TCR complementarity determining region 3 usage appears highly conserved. 53 62
11439168 2001
10
Lack of association between the Met196Arg polymorphism in the TNFR2 gene and autoimmune diseases accompanied by vasculitis including SLE in Japanese. 53 62
11169260 2001
11
Autoantibodies against chaperonin CCT in human sera with rheumatic autoimmune diseases: comparison with antibodies against other Hsp60 family proteins. 53 62
11048656 2000
12
Characterization of recombinant human autoantibody fragments directed toward the autoantigenic U1-70K protein. 53 62
11069087 2000
13
Fine specificity of anti-fibrillin-1 autoantibodies in primary pulmonary hypertension syndrome. 53 62
10849372 2000
14
Kinetics of anti-fibrillin-1 autoantibodies in MCTD and CREST syndrome. 53 62
10756089 2000
15
[Autoantibodies to the heterogeneous nuclear ribonucleoproteins and the autoimmune diseases]. 53 62
12567457 1999
16
Long-term outcome in mixed connective tissue disease: longitudinal clinical and serologic findings. 53 62
10323445 1999
17
[Mixed connective tissue disease--etiology, pathogenesis, clinical significance, treatment]. 53 62
10645148 1999
18
Respiratory complications in mixed connective tissue disease. 53 62
9917963 1998
19
Most anticardiolipin antibodies in mixed connective tissue disease are beta2-glycoprotein independent. 53 62
9458233 1998
20
D-penicillamine-induced pemphigus foliaceus with autoantibodies to desmoglein-1 in a patient with mixed connective tissue disease. 53 62
9216536 1997
21
Autoantibodies to the A/B proteins of the heterogeneous nuclear ribonucleoprotein complex: novel tools for the diagnosis of rheumatic diseases. 53 62
8957102 1996
22
Identification of autoantibodies to the I protein of the heterogeneous nuclear ribonucleoprotein complex in patients with systemic sclerosis. 53 62
8843857 1996
23
Clonotype analysis of peripheral blood T cells and autoantigen-reactive T cells from patients with mixed connective tissue disease. 53 62
7930595 1994
24
The association of myasthenia gravis and connective tissue diseases--the role of Sjøgren's syndrome. 53 62
8144128 1994
25
Immunogenetics of inflammatory myopathies. 53 62
8156144 1993
26
Mixed connective tissue disease presenting myasthenia gravis. 53 62
8312661 1993
27
Mixed connective tissue disease and Sjögren's syndrome, accompanied by HTLV-I infection. 53 62
8101109 1993
28
Anticardiolipin antibodies are associated with pulmonary hypertension in patients with mixed connective tissue disease or systemic lupus erythematosus. 53 62
8481653 1993
29
Spatial localization of distinct rheumatic disease-associated epitopes and the RNA "cap" of the U1 snRNP particle. 53 62
1374734 1992
30
In-vivo epidermal nuclear reactions: a selective process. 53 62
1873202 1991
31
HLA in systemic scleroderma (PSS) and familial scleroderma. 53 62
2050902 1991
32
Myeloid calcium binding proteins: expression in the differentiated HL-60 cells and detection in sera of patients with connective tissue diseases. 53 62
2292594 1990
33
Class II ribonuclease H comigrates with, but is distinct from, the third largest subunit of calf thymus RNA polymerase I. 53 62
1698096 1990
34
[Clinical usefulness of determining the antibodies to soluble nuclear antigens in various collagen diseases]. 53 62
2125351 1990
35
Detection of autoantibodies to Sm antigen in systemic lupus erythematosus by immunodiffusion, ELISA and immunoblotting: variability of incidence related to assays and ethnic origin of patients. 53 62
2146135 1990
36
[A case of mixed connective tissue disease developed into overlap syndrome of progressive systemic sclerosis, systemic lupus erythematosus, polymyositis and Sjögren's syndrome]. 53 62
2222196 1990
37
Mixed connective tissue disease after thymectomy in refractory myasthenia gravis. 62
34432146 2022
38
The enigma of mixed connective tissue disease-challenges in routine care. 62
35902486 2022
39
Clinical characteristics and outcomes of digital gangrene in connective tissue disorders: a longitudinal single-centre experience from Jodhpur, India. 62
35780227 2022
40
[Standardized diagnosis and treatment of undifferentiated connective tissue disease and mixed connective tissue disease]. 62
36207966 2022
41
Skin disorders and interstitial lung disease: Part II. The spectrum of cutaneous diseases with lung disease association. 62
36228940 2022
42
Management of Calcinosis Cutis in Rheumatic Diseases. 62
35569832 2022
43
Two clusters of systemic lupus erythematosus patients with muscle involvement in a Chinese cohort. 62
36117395 2022
44
Chest high-resolution computed tomography in patients with connective tissue disease: pulmonary conditions beyond "the usual suspects". 62
34579993 2022
45
COVID-19 and Sepsis in an Atypical Case of Mixed Connective Tissue Disorder Presenting With a Myasthenic Crisis. 62
36249611 2022
46
Evaluation of the European League Against Rheumatism/American College of Rheumatology-2019 classification criteria in patients with childhood-onset systemic lupus erythematosus: a single-center retrospective study. 62
35377008 2022
47
Nailfold capillaroscopy changes associated with anti-RNP antibodies in systemic lupus erythematosus. 62
34076720 2022
48
The role of protein kinase C isoenzymes in the pathogenesis of human autoimmune diseases. 62
35781096 2022
49
Increased levels of sirtuin-1 in systemic lupus erythematosus. 62
35644944 2022
50
Standardised nailfold capillaroscopy in children with rheumatic diseases: a worldwide study. 62
36005889 2022

Variations for Mixed Connective Tissue Disease

Expression for Mixed Connective Tissue Disease

Search GEO for disease gene expression data for Mixed Connective Tissue Disease.

Pathways for Mixed Connective Tissue Disease

Pathways related to Mixed Connective Tissue Disease according to GeneCards Suite gene sharing:

(show all 34)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.57 TNFSF13B TNF IL6 IL10 IFNG CD40LG
2
Show member pathways
13.35 SNRPN SNRPD3 SNRPA SNRNP70 RNPC3 LSM2
3
Show member pathways
13.34 TNFSF13B TNF IL6 IL10 CD40LG BMPR2
4
Show member pathways
13.23 TNFSF13B TNF IL6 IL10 CD40LG BMPR2
5
Show member pathways
13.1 TNFSF13B TNF IL6 IL10 IFNG HNRNPDL
6 12.5 TNFSF13B TNF IL10 IFNG CD40LG
7 12.1 TNF IL6 IL10 HSPD1
8 12.04 TNF IL6 IL10 IFNG
9
Show member pathways
12.01 TNF IL10 IFNG HLA-DRB1 CD40LG
10 11.91 TNF IL6 IL10 IFNG
11 11.9 TNFSF13B TNF IL6 IFNG
12
Show member pathways
11.83 TNF IL6 IL10 IFNG
13 11.73 TNF IL10 IFNG
14 11.69 IL6 IL10 IFNG CD40LG
15
Show member pathways
11.68 TNFSF13B TNF CD40LG
16 11.66 TNF IL6 IL10 IFNG
17 11.65 IL6 IL10 IFNG
18
Show member pathways
11.64 CD40LG IFNG TNF
19 11.6 TNF IL6 IL10
20
Show member pathways
11.58 TNF IL6 IFNG CD40LG
21 11.57 TNF IL6 IL10 IFNG CD40LG
22
Show member pathways
11.53 TNF IL6 IL10 IFNG
23 11.46 TNF IL6 IL10
24 11.45 TNFSF13B TNF IL6 IL10 CD40LG
25 11.43 TNF IL6 IFNG
26 11.41 CD40LG IFNG IL6 TNF
27 11.4 TNF IL10 IFNG HLA-DRB1 HLA-DQA1 CD40LG
28
Show member pathways
11.31 TNF IL10 IFNG
29 11.29 TNF IL6 IL10
30 11.24 IFNG IL6 TNF
31 11.23 TNF IL10 IFNG HLA-DRB1 HLA-DQA1 CD40LG
32 10.96 TNFSF13B TNF IL6 IL10 CD40LG
33 10.48 TNF IL6 IL10 IFNG HLA-DRB1
34
Show member pathways
10.32 TNF IL6

GO Terms for Mixed Connective Tissue Disease

Cellular components related to Mixed Connective Tissue Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 10.17 TNF HSPD1 HLA-DRB1 CD40LG BMPR2 ADAMTS13
2 U1 snRNP GO:0005685 9.86 SNRPN SNRPD3 SNRPA SNRNP70
3 catalytic step 2 spliceosome GO:0071013 9.76 HNRNPC LSM2 SNRPD3 SNRPN
4 ribonucleoprotein complex GO:1990904 9.5 SNRPN SNRPD3 SNRPA SNRNP70 LSM2 HNRNPDL
5 spliceosomal complex GO:0005681 9.44 SNRPN SNRPD3 SNRPA SNRNP70 RNPC3 LSM2

Biological processes related to Mixed Connective Tissue Disease according to GeneCards Suite gene sharing:

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of interleukin-6 production GO:0032755 10.14 TNF IL6 IFNG HSPD1
2 regulation of insulin secretion GO:0050796 10.1 TNF IL6 IFNG
3 response to activity GO:0014823 10.09 TNF IL6 IL10
4 positive regulation of chemokine production GO:0032722 10.08 TNF IL6 IFNG
5 positive regulation of interleukin-12 production GO:0032735 10.08 IFNG HSPD1 CD40LG
6 positive regulation of interleukin-10 production GO:0032733 10.06 IL6 HSPD1 CD40LG
7 positive regulation of receptor signaling pathway via JAK-STAT GO:0046427 10.04 TNF IL6 IL10
8 positive regulation of T cell activation GO:0050870 10.03 HSPD1 HLA-DRB1 HLA-DQA1
9 RNA splicing GO:0008380 10.02 HNRNPC LSM2 RNPC3 SNRPA SNRPD3 SNRPN
10 liver regeneration GO:0097421 10 TNF IL6 IL10
11 humoral immune response GO:0006959 9.97 TNF IL6 IFNG HLA-DRB1
12 lymphatic endothelial cell differentiation GO:0060836 9.91 BMPR2 ACVRL1
13 negative regulation of cytokine production involved in immune response GO:0002719 9.89 TNF IL10
14 venous blood vessel development GO:0060841 9.88 ACVRL1 BMPR2
15 mRNA processing GO:0006397 9.88 SNRPD3 SNRPA SNRNP70 RNPC3 LSM2 HNRNPC
16 positive regulation of T cell mediated immune response to tumor cell GO:0002842 9.85 HSPD1 HLA-DRB1
17 positive regulation of nitrogen compound metabolic process GO:0051173 9.81 IFNG TNF
18 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.8 IFNG TNF
19 positive regulation of vitamin D biosynthetic process GO:0060557 9.76 TNF IFNG
20 B cell proliferation GO:0042100 9.76 TNFSF13B IL10 HSPD1 CD40LG
21 chronic inflammatory response to antigenic stimulus GO:0002439 9.73 TNF IL10
22 endothelial cell apoptotic process GO:0072577 9.73 TNF IL10 BMPR2
23 signaling GO:0023052 9.65 TNFSF13B TNF CD40LG
24 immune response GO:0006955 9.65 CD40LG HLA-DQA1 HLA-DRB1 IFNG IL10 IL6
25 mRNA splicing, via spliceosome GO:0000398 9.47 SNRPN SNRPD3 SNRPA SNRNP70 RNPC3 LSM2

Molecular functions related to Mixed Connective Tissue Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tumor necrosis factor receptor binding GO:0005164 9.43 TNFSF13B TNF CD40LG
2 cytokine activity GO:0005125 9.4 TNFSF13B TNF IL6 IL10 IFNG CD40LG

Sources for Mixed Connective Tissue Disease

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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